Case Presentation
Case Presentation LILY TRAN, MD PEDIATRIC EPILEPTOLOGIST – CHOC CHILDREN’S SPECIALISTS INFANTILE SPASMS SYMPOSIUM OCTOBER 25, 2017
Case #1
9 month old boy
CC: Episodes of head dropping & developmental regression
HPI:
Normal development until age of 6 months, then appeared to stop progressing developmentally
Over past three months, did not develop any new skills, only sitting unsupported
Started crawling at 6 months but then stopped
Was able to look at her and track mom, but now only intermittently keeps eye contact
Does not recognize faces when looking at a mirror.
Started to coo and say mama/dada around 7 months, no longer saying any words.
Over last week, increasing brief episodes of head bobbing forward and eyes rolling back, as if baby has lost head control.
No associated emesis, loss of consciousness, or recent trauma. No changes in PO intake, voiding, or stooling.
Case #1
PMHx:
Surgical Hx:
None
Birth Hx:
8/2016: History of episode diagnosed as ALTE
NSVD at term, uncomplicated delivery and nursery stay and went home with mom
Development:
By 6 months: cooing, sat unsupported, started to roll over.
Past three months has not rolled over, is not able to pull to stand, less social, smiling less, does not respond to name, feeding self less. Used to say "mama" but has not for a few weeks.
Case #1
IZN: Up‐to‐date
Family Hx:
Father ‐ celiac disease, diabetes mellitus Mother ‐ Hashimoto's Maternal GF ‐ leukemia at age 40 Older brother with h/o post‐infectious demyelinating disorder No family history of epilepsy
Social Hx:
Lives with mother, father, and 3 siblings
Case #1
Exam:
General exam: Normal
Neurological exam:
Cognition and Attention:
Attention: Normal for age.
Cranial Nerves: Normal
Motor: Normal bulk and tone 5/5 bilateral upper and lower extremities.
DTR: 2+ throughout the biceps, bracioradialis, patella, and ankle.
Sensation: Intact to light touch throughout with no evidence of extinction.
Coordination: No dysmetria with reach for toys or objects.
Case #2
8 month old girl with tuberous sclerosis complex
CC: Clusters of seizure‐like activity x 1 day
HPI:
Brief episodes of shoulders shrugs and bilateral arms extension
Occurs 1‐3 times in a clusters
Episodes not associated with awakening from sleep. No eye deviation.
Not babbling as much and not as social
Otherwise been well, no fevers/cough/congestion/vomiting/diarrhea/weight loss.
Case #2
PMHx:
Tuberous sclerosis work up started when PMD noticed multiple hypopigmented spots on exam. Per mom genetics testing sent and positive for TS. Imaging of brain completed and showed lesion in frontal lobe, renal imaging showed lesion in the kidney as well.
Surgical Hx: None
Birth Hx: Full‐Term, NSVD, baby had irregular heart beat in utero, mom on bedrest for incompetent cervix. Otherwise no complications.
Developmental Hx:
Sat by 6 months of age. She is currently pulling to stand and cruising. She turns pages in books and foods herself finger foods. She uses both hands equally. She babbles "mama" "dada" and "nana" (grandma). Mom reports that she is not babbling as often as she was prior to onset of spells, but she has not lost any words. Similarly, she was more social prior to onset, in that she laughed, smiled, and was more, but still laughs and smiles
Case #2
IZN: Received 4 month vaccines, needs 6 month vaccines and flu.
Family Hx:
Dad with tuberous sclerosis, otherwise cousin with seizure disorder. No other developmental delay, brain tumors.
Seizures: cousin. No Developmental Delay. No Neuromuscular Disease. No Psychiatric Illness.
Social Hx:
Lives at home with mom dad, half sister, niece.
Case #2
Exam:
General: Normal
Neurological Exam:
Mental Status: Age appropriate. Observed State: Alert, Attentive to environment Speech: babbling during exam.
Cranial Nerves: Normal
Motor Examination: Normal bulk and tone. Strong and symmetric strength in all four extremities.
Coordination: reaches for objects, uses pincer grasp, brings to mouth.
Reflexes: DTRs: 2+ throughout Toes: Upgoing
Sensory exam: Pain and soft sensation: Intact throughout.
Case #1
9 month old boy
CC: Episodes of head dropping & developmental regression
HPI:
Normal development until age of 6 months, then appeared to stop progressing developmentally
Over past three months, did not develop any new skills, only sitting unsupported
Started crawling at 6 months but then stopped
Was able to look at her and track mom, but now only intermittently keeps eye contact
Does not recognize faces when looking at a mirror.
Started to coo and say mama/dada around 7 months, no longer saying any words.
Over last week, increasing brief episodes of head bobbing forward and eyes rolling back, as if baby has lost head control.
No associated emesis, loss of consciousness, or recent trauma. No changes in PO intake, voiding, or stooling.
Case #1
PMHx:
Surgical Hx:
None
Birth Hx:
8/2016: History of episode diagnosed as ALTE
NSVD at term, uncomplicated delivery and nursery stay and went home with mom
Development:
By 6 months: cooing, sat unsupported, started to roll over.
Past three months has not rolled over, is not able to pull to stand, less social, smiling less, does not respond to name, feeding self less. Used to say "mama" but has not for a few weeks.
Case #1
IZN: Up‐to‐date
Family Hx:
Father ‐ celiac disease, diabetes mellitus Mother ‐ Hashimoto's Maternal GF ‐ leukemia at age 40 Older brother with h/o post‐infectious demyelinating disorder No family history of epilepsy
Social Hx:
Lives with mother, father, and 3 siblings
Case #1
Exam:
General exam: Normal
Neurological exam:
Cognition and Attention:
Attention: Normal for age.
Cranial Nerves: Normal
Motor: Normal bulk and tone 5/5 bilateral upper and lower extremities.
DTR: 2+ throughout the biceps, bracioradialis, patella, and ankle.
Sensation: Intact to light touch throughout with no evidence of extinction.
Coordination: No dysmetria with reach for toys or objects.
Case #2
8 month old girl with tuberous sclerosis complex
CC: Clusters of seizure‐like activity x 1 day
HPI:
Brief episodes of shoulders shrugs and bilateral arms extension
Occurs 1‐3 times in a clusters
Episodes not associated with awakening from sleep. No eye deviation.
Not babbling as much and not as social
Otherwise been well, no fevers/cough/congestion/vomiting/diarrhea/weight loss.
Case #2
PMHx:
Tuberous sclerosis work up started when PMD noticed multiple hypopigmented spots on exam. Per mom genetics testing sent and positive for TS. Imaging of brain completed and showed lesion in frontal lobe, renal imaging showed lesion in the kidney as well.
Surgical Hx: None
Birth Hx: Full‐Term, NSVD, baby had irregular heart beat in utero, mom on bedrest for incompetent cervix. Otherwise no complications.
Developmental Hx:
Sat by 6 months of age. She is currently pulling to stand and cruising. She turns pages in books and foods herself finger foods. She uses both hands equally. She babbles "mama" "dada" and "nana" (grandma). Mom reports that she is not babbling as often as she was prior to onset of spells, but she has not lost any words. Similarly, she was more social prior to onset, in that she laughed, smiled, and was more, but still laughs and smiles
Case #2
IZN: Received 4 month vaccines, needs 6 month vaccines and flu.
Family Hx:
Dad with tuberous sclerosis, otherwise cousin with seizure disorder. No other developmental delay, brain tumors.
Seizures: cousin. No Developmental Delay. No Neuromuscular Disease. No Psychiatric Illness.
Social Hx:
Lives at home with mom dad, half sister, niece.
Case #2
Exam:
General: Normal
Neurological Exam:
Mental Status: Age appropriate. Observed State: Alert, Attentive to environment Speech: babbling during exam.
Cranial Nerves: Normal
Motor Examination: Normal bulk and tone. Strong and symmetric strength in all four extremities.
Coordination: reaches for objects, uses pincer grasp, brings to mouth.
Reflexes: DTRs: 2+ throughout Toes: Upgoing
Sensory exam: Pain and soft sensation: Intact throughout.
